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Pain syndromes

Gene: SMPDL3A

No list
SMPDL3A (sphingomyelin phosphodiesterase acid like 3A)
EnsemblGeneIds (GRCh38): ENSG00000172594
EnsemblGeneIds (GRCh37): ENSG00000172594
OMIM: 610728, Gene2Phenotype
SMPDL3A is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Hom missense variant in twin sisters with severely reduced pain and temperature sensation
Sources: Literature
Created: 12 Jun 2021, 3:22 a.m. | Last Modified: 12 Jun 2021, 3:22 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensory neuropathy

Publications

Created: 12 Jun 2021, 3:22 a.m.
Last Modified: 12 Jun 2021, 3:22 a.m.
Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Sensory neuropathy
OMIM
610728
Clinvar variants
Variants in SMPDL3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SMPDL3A was added gene: SMPDL3A was added to Pain syndromes. Sources: Literature Mode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPDL3A were set to 33884296 Phenotypes for gene: SMPDL3A were set to Sensory neuropathy Review for gene: SMPDL3A was set to RED